My son was diagnosed with Mosaic Triploidy, a very rare disease. There are currently only approximately 50 recorded cases in the world. My goal? Raising awareness and sharing my story.

On November 1, 2011, I took a pregnancy test as I had been having symptoms for a few weeks. My husband was adament that I was not pregnant because I had the Mirena IUD placed in 2009, and it is guaranteed to last for five years. The first, as well as the second test showed positive immediately. I cried the entire day, knowing in my heart we could not afford another child. Josh insisted we should not believe the tests until we had an ultrasound, confirming the baby.

We went to the doctor on four different occasions and completed four separate ultrasounds before we could see our baby, Castan. Everything went well, other than he always hid from the heart doppler. At fifteen weeks, I could not wait any longer to find out what we were having, so we went to get a 3D/4D ultrasound done. Having three girls and the loss of our other son, we were ecstatic to be having another boy.

At 19 weeks, we went to my midwife for an anatomy scan. There, we discovered that Castan was not growing correctly. His head was only two weeks behind, but his chest and abdomen were about six weeks behind. I immediately started crying because I knew something was wrong. Josh tried to stay positive and encouraged me not to be paranoid.

Sue, my midwife, instructed us to see the perinatologist. I remember we went there on a Friday, and at that time, he insisted I have an amniocentesis. He was concerned our baby had Down syndrome. I was not sure if I wanted an amniocentesis, partly because of the risks associated with the procedure, but also because I was frightened of the results. The perinatologist pressured us and thus, we decided to get it done. Two weeks later (at 21 weeks), we were called in to his office and were told Castan had full blown Triploidy and would not live. He also said, I was too far along to “terminate the pregnancy,” even if I wanted to. We were devastated.

I was very upset with how he delivered the news, so I got a second opinion. This particular doctor informed us he actually has the mosaic form of Triploidy and had a chance to live – but he would most likely be stillborn. This was still not the news I wanted to hear or accept. So, I started researching everything I could get my hands on. I wanted to know everything about Diploid Triploidy Mosaic Syndrome (DTM), or Mosaic Triploidy. It is such a rare disorder that there is very little information out there. I joined a group of family members of babies with DTM, and I started a Facebook page to prove we were not going to give up on him.

My water broke at 29 weeks. We were told that Castan only had a 10 percent chance to live because his lungs were not going to be developed due to him being so extremely tiny. On April 27, Castan was born, weighing one pound and twelve ounces. He was only 14 inches long. From day one, he has been a fighter. A few days after he was born, his doctor told me he did not expect him to live. I did not understand because all of his tests had shown he was doing amazingly. But the doctor said he would not live because he was “so small.” I told him I chose to believe differently.

The doctor tried to quote the statistics of full blown Triploidy to me. Full blown is “incompatible with life” and has the longest recorded case living to 10.5 months. Every statistic he quoted me, I corrected. I did not want this doctor giving up on my son, just because he did not understand his disorder – and just as importantly, because he didn’t want to believe. Today, Castan is a little over five months old. He is five pounds and four ounces, 19.5 inches long. Every day he amazes me.

The doctors told me he would have extremely low muscle tone and would develop way slower than “normal” babies. He started rolling over about a week or so after we got home, which they said he would not do until seven to eight months. He smiles and he coos. He does everything a normal baby can, except cry. I wanted to let anyone who has this or any other rare diagnosis to know that there is HOPE regardless of what the doctors say.

Anyone who has this diagnosis can feel free to contact me or follow Castan’s page. HOPE, it’s in our Genes.

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My daughter has down syndrome…they were upset I didn’t get the genetic testing b cuz of my age. It wouldn’t have changed the out come. Thank goodness I didn’t listen to the horror stories she is six today…and my precious angel who is very healthy…she’s perfect to me. She the last of seven children…and probably the best in manners and behaviors. Btw…none of my children are perfect even what others think to be the normal ones…I think more people should be like those with downs…they are more perfect than those who arent…they are very angelic in nature and I think we could use more of this in life. My heart goes out to you…God bless you honey.

Hi, your story sounds almost the exact as mine. Mine happened in 2007 I was 22 years old and was having a lot of complications and low blood levels they also thought I was having a downsydrom baby or maybe twins. But on Dec 21, 2006 I went to find out what I was having and she wouldn’t come out of fetal condition and they found out she had a sis on her brain and also bad kidneys. So I had the needle put in my stomach to get the fluids and find out what was really wrong and that’s also how I found out I was having a girl and that she had triplody. So on Jan 4th 2007.. I did have the surgery to have her taken bc my doctor told me there was a 99% chance of her dieing before birth or only had 3 months to live if she mad it after birth… it has been 6 years and I am now 28. all my friends are having babys and I just now decided to actually look into what she had so I would love to be part of what your doing. I even got a tattoo for her on my side just a few months ago bc she now is my little angle!!!

I have been following “Believe in Castan” on Facebook before he grew his wings! He is an angel!!! I went to look for the page today on Facebook to see how his sisters are and mom and dad and the page would not come up. I was told I am banned (Blocked) from his page. Why on earth is this? I’ve not done anything to hurt this precious child or his family or anyone else concerned with him. I am sad that this happened but have no idea why it happened. Love to you always from Carmen Moore in North Pole, Alaska (lyricalaska@yahoo.com)

Hi….I came across Castan’s FB page on the my wall from a friend who liked your page and I wanted to read on. As a mother of a special needs child with a rare disorder, I can sympathize and tell you how much I understand where you’re coming from. Although Castan’s disorder is much more rare, I just wanted to say that I admire your strength not just for yourself and your family, but for Castan’s. I am sorry to hear about his passing, and I pray for your continued strength. He is your angel and got his wings he earned. Thank you for sharing your story.

I have followed Castan for a little while and his story, your story has touched many hearts. To hear about him passing so suddenly breaks my heart. I can never imagine the pain your family must feel. I feel so badly for tour daughter celebrating a birthday now planning a memorial. You are a strong woman and an even stronger mother for believing in your family. Thank you for sharing his videos and his pictures. I mean it from the bottom of my heart..he has touched my life and I loved him. You have beautiful girls and a beautiful family. Castan now has beautiful wings and watches over you all. Knowing the statistics it is impossible to beloved the best outcome. I admire your stregnth and I pray for healing for your entire family

Hi, Blessings for Castan and your whole family. It feels so wonderful to look over all of his pictures and see how great he’s doing and you have a beautiful family. This was a good thing for you to start the page for him and your family too on Facebook. I’m friends with some of the others that have kept up with all of the posts also. If I didn’t get to see some pictures or posts, my friends keep me up on them too. I’m thankful to have 3 wonderful children myself. I’ve got 7 more in heaven waiting for the day we all meet again. When I was 39 years old I had my last child. The Drs wanted me to have all kinds of tests and said that I was too old and that my baby would probably have all kinds of problems if he made it. I didn’t go for the amniocentesis that he wanted me to go for. I had a low lying placenta and had to be put on bed rest. After losing 3 babies in one &1/2 years I couldn’t stand the thought of having something done that could possibly make me lose another baby, so we prayed and waited. He was due about a week before Christmas, and was born in Nov. He was a bit early but his weight was good. He had to stay at the hospital for a week but he was fine. He now is 18 years old and plays guitar and sings with his nephew and a few friends in a band. He loves his whole family,his girlfriend, Music, guitar science, video games, beautiful skies, animals, the Ocean, and bacon. Hes always been a wonderful son that we’re so blessed God gave to us. Every child is a blessing. I’m just glad that I didn’t listen to the Dr always, because they all just don’t know. I’m glad for all of you that you have your sweet little man too, I just wanted to tell you that. I also wanted to say that seeing the cute smile, makes me smile and I’m sure that his cute little smile makes you all smile every day. Faith is what keeps us going strong. God bless you all.

My son was born with severe birth defects in 1900, however, my OB determined not to tell me. Once born, he was given <1 year to live with severe aortic stenosis, mental retardation, and a brain malformation. Through 30+ bouts with pnemonia, 3 heart surgeries, 2 stomach surgeries, 2 genital reconstructions, seizures and severe retardation, my son was a happy child. Turns out he proved the doctors wrong time and time again.
I trusted in my gut feelings, as his Mom, I knew him best. I encourage you to do the same. He was the youngest of 3 boys, his brothers loved him so much. Doctors trusted me and have told me the reason he lived so long was because of my care and the reason he was so happy was because of our unconditional love.
He passed away last March, almost reaching the age of 22. Your life will be different than others, it will give you a different perspective of life. My faith has allowed me to grow and understand God has a plan for us all. My sons plan was to live 22 years and give a goofy smile and hug to all people he met.

Thank you! My goal is to spread the word about Mosaic Triploidy. There are so many mothers who are pushed to terminate bc they are told their babies will not live and it just breaks my heart! I was told Castan would not live and he is 6.5 months old now.